Pendred syndrome


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Pen·dred syn·drome (PDS),

(pen'drĕd), [MIM*274600]
characterized by congenital sensorineural hearing impairment with goiter (usually small) due to defective organic binding of iodine in the thyroid; afflicted people are usually euthyroid; autosomal recessive inheritance, caused by mutation in the Pendred syndrome gene (PDS) encoding pendrin on chromosome 7q.

Pendred syndrome

An autosomal recessive MIM 274600 condition associated with developmental defects of the cochlea, sensorineural hearing loss and diffuse thyroid enlargement; it is the most common syndromic form of deafness.

Diagnosis
The gold-standard (perchlorate discharge) test is nonspecific, and its sensitivity is unknown.

Pathogenesis
It is caused by mutation in the SLC26A4/PDS.

Pendred syndrome

Endocrinology Hereditary association of congenital deafness and goiter due to a defect in thyroid hormone production. See Goiter. Cf Hypothyroidism.

Pen·dred syn·drome

(pen'drĕd sin'drōm)
Characterized by congenital sensorineural hearing impairment with goiter (usually small) due to defective organic binding of iodine in the thyroid; those afflicted are usually euthyroid; autosomal recessive inheritance, caused by mutation in the Pendred syndrome gene (PDS) encoding pendrin on chromosome 7q.

Pendred,

Vaughan, English surgeon, 1869-1946.
Pendred syndrome - a type of familial goiter.
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References in periodicals archive ?
Pendred syndrome, DFNB4, and PDS/SLC26A4 identification of eight novel mutations and possible genotype-phenotype correlations.
Two frequent missense mutations in Pendred syndrome. Hum.
Pendred syndrome and DFNB4-mutation screening of SLC26A4 by denaturing high-performance liquid chromatography and the identification of eleven novel mutations.
Distribution and frequencies of PDS (SLC26A4) mutations in Pendred syndrome and non-syndromic hearing loss associated with enlarged vestibular aqueduct: a unique spectrum of mutations in Japanese.
p.Y556C is a Recurrent Mutation in Pendred Syndrome causing Gene SLC26A4 in Punjabi Population
Identification of two different mutations in the PDS gene in an inbred family with Pendred syndrome. J Med Genet 36:475-477.
Pendred syndrome (goitre and sensorineural hearing loss) maps to chromosome 7 in the region containing the nonsyndromic deafness gene DFNB4.
Molecular analysis of the PDS gene in Pendred syndrome. Hem Mol G enet 7:1105-1112.
Prevalence, age of onset, and natural history of thyroid disease in Pendred syndrome. J Med Genet 36:595-598.
Enlarged vestibular aqueduct: a radiological marker of Pendred syndrome, and mutation of the PDS gene.
Functional differences of the PDS gene product are associated with phenotypic variation in patients with Pendred syndrome and non-syndromic hearing loss (DFNB4).
Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine erganification.
Screening the SLC26A4 gene in probands with deafness and goiter (Pendred syndrome) ascertained from a large group of students of the schools for the deaf in Turkey.
Genetic factors that might lead to different responses in individuals exposed to perchlorate

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